Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Tsc2 | Mouse | Arthralgia | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthralgia | ClinVar | PMID:25741868 more ... | Tsc2 | Mouse | astroblastoma, MN1-altered | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Astroblastoma and MN1-altered | ClinVar | PMID:25741868 and PMID:28492532 | Tsc2 | Mouse | autism spectrum disorder | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10735580 more ... | Tsc2 | Mouse | autosomal dominant polycystic kidney disease | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar | PMID:21115670 more ... | Tsc2 | Mouse | bone osteosarcoma | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bone osteosarcoma | ClinVar | PMID:25741868 and PMID:26822237 | Tsc2 | Mouse | Brain Neoplasms | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm of brain | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | Cafe-au-Lait Spots | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cafe-au-lait spot | ClinVar | PMID:25741868 more ... | Tsc2 | Mouse | developmental and epileptic encephalopathy 1 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:28492532 and PMID:30866059 | Tsc2 | Mouse | endometrial carcinoma | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | | Tsc2 | Mouse | epilepsy | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17304050 more ... | Tsc2 | Mouse | familial adenomatous polyposis 3 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NTHL1-related condition | ClinVar | PMID:25741868 and PMID:28492532 | Tsc2 | Mouse | Fever | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Episodic fever | ClinVar | PMID:28492532 | Tsc2 | Mouse | Focal Cortical Dysplasia of Taylor | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | genetic disease | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hamartoma | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hamartoma | ClinVar | PMID:25741868 | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32860008 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:9076719 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:9412784 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:33084842 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:33226606 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hereditary Neoplastic Syndromes | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Hirschsprung Disease 1 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | Hirschsprung's disease | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | idiopathic generalized epilepsy | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | Tsc2 | Mouse | intellectual disability | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | Joint Instability | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joint hypermobility | ClinVar | PMID:25741868 more ... | Tsc2 | Mouse | lymphangioleiomyomatosis | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10090883 more ... | Tsc2 | Mouse | Nervous System Malformations | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | Tsc2 | Mouse | neuroblastoma | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuroblastoma | ClinVar | PMID:26822237 | Tsc2 | Mouse | Neurodevelopmental Disorders | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Tsc2 | Mouse | ovarian cancer | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ovarian cancer | ClinVar | PMID:10732801 more ... | Tsc2 | Mouse | polycystic kidney disease | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polycystic kidney disease and adult type | ClinVar | PMID:17304050 more ... | Tsc2 | Mouse | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | Tsc2 | Mouse | tuberous sclerosis | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10069705 more ... | Tsc2 | Mouse | tuberous sclerosis | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32461669 more ... | Tsc2 | Mouse | tuberous sclerosis | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10069705 more ... | Tsc2 | Mouse | tuberous sclerosis | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:32461669 more ... | Tsc2 | Mouse | tuberous sclerosis 1 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:10205261 more ... | Tsc2 | Mouse | tuberous sclerosis 2 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:10069705 more ... | Tsc2 | Mouse | tuberous sclerosis 2 | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:3 more ... | Tsc2 | Mouse | vascular dementia | | ISO | TSC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:25741868 more ... | |